Genomic variant #0000046750

Individual ID 00024220
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.119694673_119700420del
DNA change (hg38) g.120560818_120566565del
Published as hg18 chrX:g.119578701_119584448del
ISCN -
DB-ID CUL4B_000022 See all 2 reported entries
Variant remarks complete loss RNA expression patient LCLs, CUL4A expression unchanged
Reference PubMed: Wibley 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CUL4B NM_003588.3 +/. 2i c.68-5940_68-193del - r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024212 DNA;RNA arrayCGH;PCR;RT-PCR;SEQ LCL - CUL4B 1 Johan den Dunnen